Mutagenetix > Incidental Mutation

Incidental Mutation 'R5150:Robo1'

395320

Institutional Source

Beutler Lab

Gene Symbol

Robo1

Ensembl Gene

ENSMUSG00000022883

Gene Name

roundabout guidance receptor 1

Synonyms

DUTT1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5150 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72105194-72842983 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72769192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 537 (T537K)

Ref Sequence

ENSEMBL: ENSMUSP00000023600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023600]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023600
AA Change: T537K

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: T537K

Domain	Start	End	E-Value	Type
IGc2	41	115	3.15e-10	SMART
IGc2	143	208	2.52e-9	SMART
IGc2	235	298	3.85e-14	SMART
IGv	328	391	3.71e-7	SMART
IGc2	428	493	2.46e-12	SMART
FN3	522	604	3.17e-13	SMART
FN3	634	721	1.66e0	SMART
FN3	736	822	4.28e-10	SMART
low complexity region	1108	1125	N/A	INTRINSIC
low complexity region	1148	1157	N/A	INTRINSIC
low complexity region	1186	1197	N/A	INTRINSIC
low complexity region	1249	1269	N/A	INTRINSIC
low complexity region	1282	1298	N/A	INTRINSIC
low complexity region	1345	1357	N/A	INTRINSIC
low complexity region	1362	1380	N/A	INTRINSIC
low complexity region	1442	1449	N/A	INTRINSIC
low complexity region	1563	1576	N/A	INTRINSIC
low complexity region	1602	1611	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000232205
AA Change: T546K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232545

Meta Mutation Damage Score

0.2715

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

93% (57/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a reporter allele show altered axon guidance. Mice homozygous for a null allele die at birth showing aberrant axon pathfinding and cortical interneuron migration. Homozygotes for another null allele show neonatal death, aphagia, delayed lung maturation and bronchial hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	T	C	2: 130,895,117 (GRCm39)		probably benign	Het
Ahnak	T	C	19: 8,988,268 (GRCm39)	V3184A	possibly damaging	Het
Aoc1	A	G	6: 48,883,084 (GRCm39)	N320S	possibly damaging	Het
Bin2	T	C	15: 100,543,244 (GRCm39)	E313G	probably damaging	Het
Brd10	C	A	19: 29,782,950 (GRCm39)	A109S	probably damaging	Het
C9orf72	A	G	4: 35,193,270 (GRCm39)	S228P	possibly damaging	Het
Ccdc47	T	C	11: 106,096,265 (GRCm39)	D253G	possibly damaging	Het
Ccdc73	A	G	2: 104,822,384 (GRCm39)	T778A	probably benign	Het
Cops3	C	A	11: 59,710,839 (GRCm39)	D377Y	probably damaging	Het
Cyp4a14	A	C	4: 115,350,806 (GRCm39)	V156G	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Disp1	C	A	1: 182,871,063 (GRCm39)	M452I	probably damaging	Het
Fam210b	T	C	2: 172,193,468 (GRCm39)	Y94H	probably damaging	Het
Fbxo45	C	A	16: 32,065,524 (GRCm39)		probably benign	Het
Flrt2	T	A	12: 95,745,977 (GRCm39)	M105K	possibly damaging	Het
Gm26558	G	A	2: 70,491,656 (GRCm39)		probably benign	Het
Gpr83	T	G	9: 14,772,101 (GRCm39)	L91R	probably damaging	Het
Greb1l	TTTAATAACTT	TTT	18: 10,555,950 (GRCm39)		probably null	Het
Hmces	T	A	6: 87,910,217 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Ksr2	A	C	5: 117,693,074 (GRCm39)	E174A	probably damaging	Het
Lats1	A	G	10: 7,588,415 (GRCm39)	T1011A	probably benign	Het
Lrrc46	T	C	11: 96,926,957 (GRCm39)	D120G	probably damaging	Het
Ncstn	C	A	1: 171,895,151 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,059,130 (GRCm39)	T6118A	probably benign	Het
Nipsnap2	A	C	5: 129,834,175 (GRCm39)	M272L	probably benign	Het
Nlgn2	C	T	11: 69,716,216 (GRCm39)	R775H	probably damaging	Het
Or13c7c	A	G	4: 43,836,301 (GRCm39)	L63P	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or4f15	T	A	2: 111,814,366 (GRCm39)	T18S	probably benign	Het
Or4f61	T	A	2: 111,922,880 (GRCm39)	L55F	possibly damaging	Het
Or4g17	T	A	2: 111,209,598 (GRCm39)	D84E	probably damaging	Het
Or5b118	A	T	19: 13,448,794 (GRCm39)	Q153H	probably benign	Het
Pold1	A	G	7: 44,185,256 (GRCm39)	V750A	possibly damaging	Het
Prdm11	C	T	2: 92,805,817 (GRCm39)	E378K	probably damaging	Het
Ptpn9	A	G	9: 56,943,954 (GRCm39)	D276G	probably benign	Het
Rlf	A	T	4: 121,005,369 (GRCm39)	F1204I	probably damaging	Het
Sec31b	T	A	19: 44,508,970 (GRCm39)	M670L	probably benign	Het
Sephs1	T	A	2: 4,904,321 (GRCm39)	V233E	possibly damaging	Het
Serpinb2	T	C	1: 107,450,939 (GRCm39)		probably null	Het
Sf3b3	T	C	8: 111,550,008 (GRCm39)	Q670R	possibly damaging	Het
Slc8a2	A	C	7: 15,879,101 (GRCm39)	D529A	possibly damaging	Het
Sva	A	G	6: 42,019,093 (GRCm39)	N88D	probably benign	Het
Tcf15	G	T	2: 151,986,051 (GRCm39)	R169L	probably damaging	Het
Tfr2	A	G	5: 137,572,752 (GRCm39)	T188A	probably benign	Het
Tshz1	T	A	18: 84,031,340 (GRCm39)	K1023*	probably null	Het
Ttc28	A	G	5: 111,373,555 (GRCm39)	N966S	probably damaging	Het
Unc5c	T	A	3: 141,463,554 (GRCm39)	I225N	probably damaging	Het
Ush2a	T	C	1: 188,184,067 (GRCm39)	L1457S	possibly damaging	Het
Zbtb34	G	T	2: 33,301,133 (GRCm39)	H469Q	probably damaging	Het
Zfp692	T	C	11: 58,198,413 (GRCm39)	M1T	probably null	Het

Other mutations in Robo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01766:Robo1	APN	16	72,801,553 (GRCm39)	missense	probably benign	0.00
IGL01937:Robo1	APN	16	72,759,114 (GRCm39)	missense	probably damaging	1.00
IGL01945:Robo1	APN	16	72,759,114 (GRCm39)	missense	probably damaging	1.00
IGL02151:Robo1	APN	16	72,786,504 (GRCm39)	missense	probably benign	0.00
IGL02232:Robo1	APN	16	72,768,872 (GRCm39)	missense	possibly damaging	0.59
IGL02282:Robo1	APN	16	72,539,026 (GRCm39)	missense	probably damaging	1.00
IGL02590:Robo1	APN	16	72,840,020 (GRCm39)	missense	probably benign	0.06
IGL02874:Robo1	APN	16	72,809,806 (GRCm39)	missense	probably damaging	0.96
IGL02974:Robo1	APN	16	72,803,750 (GRCm39)	missense	probably benign	0.09
IGL03233:Robo1	APN	16	72,767,081 (GRCm39)	missense	probably damaging	0.99
PIT4378001:Robo1	UTSW	16	72,801,423 (GRCm39)	missense	probably damaging	1.00
R0079:Robo1	UTSW	16	72,730,230 (GRCm39)	splice site	probably benign
R0254:Robo1	UTSW	16	72,461,058 (GRCm39)	missense	probably benign	0.00
R0366:Robo1	UTSW	16	72,539,133 (GRCm39)	missense	possibly damaging	0.52
R0410:Robo1	UTSW	16	72,768,872 (GRCm39)	missense	possibly damaging	0.59
R0511:Robo1	UTSW	16	72,810,013 (GRCm39)	critical splice donor site	probably null
R0563:Robo1	UTSW	16	72,769,174 (GRCm39)	missense	probably benign	0.01
R0637:Robo1	UTSW	16	72,798,839 (GRCm39)	missense	probably benign	0.29
R1239:Robo1	UTSW	16	72,821,430 (GRCm39)	splice site	probably null
R1773:Robo1	UTSW	16	72,801,399 (GRCm39)	missense	probably benign	0.00
R1777:Robo1	UTSW	16	72,801,555 (GRCm39)	missense	probably benign
R1901:Robo1	UTSW	16	72,757,092 (GRCm39)	missense	probably null	1.00
R1902:Robo1	UTSW	16	72,757,092 (GRCm39)	missense	probably null	1.00
R1903:Robo1	UTSW	16	72,757,092 (GRCm39)	missense	probably null	1.00
R1996:Robo1	UTSW	16	72,767,067 (GRCm39)	missense	probably benign	0.40
R2040:Robo1	UTSW	16	72,730,630 (GRCm39)	missense	probably damaging	1.00
R2266:Robo1	UTSW	16	72,775,660 (GRCm39)	missense	probably benign
R2269:Robo1	UTSW	16	72,775,660 (GRCm39)	missense	probably benign
R2433:Robo1	UTSW	16	72,767,127 (GRCm39)	missense	probably benign	0.01
R3084:Robo1	UTSW	16	72,801,625 (GRCm39)	missense	probably benign	0.02
R3085:Robo1	UTSW	16	72,798,898 (GRCm39)	missense	possibly damaging	0.81
R3150:Robo1	UTSW	16	72,767,157 (GRCm39)	missense	possibly damaging	0.57
R3418:Robo1	UTSW	16	72,832,805 (GRCm39)	missense	probably benign	0.00
R3610:Robo1	UTSW	16	72,780,658 (GRCm39)	missense	probably benign	0.00
R3940:Robo1	UTSW	16	72,806,631 (GRCm39)	missense	probably benign
R3953:Robo1	UTSW	16	72,821,226 (GRCm39)	missense	probably damaging	1.00
R4692:Robo1	UTSW	16	72,757,090 (GRCm39)	missense	probably damaging	1.00
R4726:Robo1	UTSW	16	72,768,931 (GRCm39)	missense	probably damaging	1.00
R4814:Robo1	UTSW	16	72,768,923 (GRCm39)	missense	probably benign	0.11
R4884:Robo1	UTSW	16	72,701,639 (GRCm39)	missense	probably damaging	1.00
R4992:Robo1	UTSW	16	72,776,756 (GRCm39)	missense	probably damaging	0.98
R5183:Robo1	UTSW	16	72,539,038 (GRCm39)	missense	probably benign	0.03
R5360:Robo1	UTSW	16	72,732,665 (GRCm39)	missense	probably damaging	0.96
R5629:Robo1	UTSW	16	72,780,598 (GRCm39)	missense	probably benign	0.33
R5804:Robo1	UTSW	16	72,840,077 (GRCm39)	critical splice donor site	probably null
R6107:Robo1	UTSW	16	72,780,717 (GRCm39)	missense	probably benign	0.00
R6127:Robo1	UTSW	16	72,809,956 (GRCm39)	missense	probably benign
R6128:Robo1	UTSW	16	72,809,956 (GRCm39)	missense	probably benign
R6129:Robo1	UTSW	16	72,809,956 (GRCm39)	missense	probably benign
R6191:Robo1	UTSW	16	72,730,696 (GRCm39)	missense	probably benign	0.00
R6357:Robo1	UTSW	16	72,767,190 (GRCm39)	missense	probably benign	0.00
R6408:Robo1	UTSW	16	72,768,934 (GRCm39)	missense	probably benign	0.00
R6516:Robo1	UTSW	16	72,821,241 (GRCm39)	missense	probably benign	0.14
R6600:Robo1	UTSW	16	72,786,543 (GRCm39)	missense	probably damaging	1.00
R6802:Robo1	UTSW	16	72,730,201 (GRCm39)	missense	probably benign	0.17
R7105:Robo1	UTSW	16	72,539,049 (GRCm39)	missense	probably damaging	1.00
R7189:Robo1	UTSW	16	72,757,039 (GRCm39)	nonsense	probably null
R7290:Robo1	UTSW	16	72,801,408 (GRCm39)	missense	probably benign	0.03
R7296:Robo1	UTSW	16	72,786,519 (GRCm39)	nonsense	probably null
R7576:Robo1	UTSW	16	72,767,069 (GRCm39)	missense	probably damaging	0.99
R7605:Robo1	UTSW	16	72,821,189 (GRCm39)	missense	probably benign	0.14
R7607:Robo1	UTSW	16	72,360,626 (GRCm39)	missense
R7634:Robo1	UTSW	16	72,839,866 (GRCm39)	splice site	probably null
R7636:Robo1	UTSW	16	72,360,615 (GRCm39)	missense
R7857:Robo1	UTSW	16	72,767,099 (GRCm39)	missense	probably damaging	1.00
R7966:Robo1	UTSW	16	72,780,760 (GRCm39)	missense	possibly damaging	0.62
R7997:Robo1	UTSW	16	72,701,581 (GRCm39)	missense	probably damaging	1.00
R8101:Robo1	UTSW	16	72,775,469 (GRCm39)	missense	probably benign	0.03
R8191:Robo1	UTSW	16	72,730,142 (GRCm39)	missense	probably damaging	1.00
R8218:Robo1	UTSW	16	72,786,678 (GRCm39)	missense	possibly damaging	0.91
R8228:Robo1	UTSW	16	72,809,768 (GRCm39)	missense	probably benign	0.30
R8292:Robo1	UTSW	16	72,769,420 (GRCm39)	missense	possibly damaging	0.61
R8298:Robo1	UTSW	16	72,769,020 (GRCm39)	intron	probably benign
R8332:Robo1	UTSW	16	72,775,466 (GRCm39)	missense	probably damaging	1.00
R8402:Robo1	UTSW	16	72,821,385 (GRCm39)	missense	probably benign	0.16
R8492:Robo1	UTSW	16	72,809,911 (GRCm39)	missense	probably benign	0.06
R8730:Robo1	UTSW	16	72,786,495 (GRCm39)	missense	probably benign	0.08
R8774:Robo1	UTSW	16	72,832,719 (GRCm39)	missense	probably benign	0.00
R8774-TAIL:Robo1	UTSW	16	72,832,719 (GRCm39)	missense	probably benign	0.00
R8776:Robo1	UTSW	16	72,821,141 (GRCm39)	nonsense	probably null
R8776-TAIL:Robo1	UTSW	16	72,821,141 (GRCm39)	nonsense	probably null
R8905:Robo1	UTSW	16	72,539,173 (GRCm39)	missense	probably damaging	1.00
R8913:Robo1	UTSW	16	72,701,622 (GRCm39)	missense	probably damaging	1.00
R9003:Robo1	UTSW	16	72,539,002 (GRCm39)	splice site	probably benign
R9246:Robo1	UTSW	16	72,769,178 (GRCm39)	missense	probably benign
R9451:Robo1	UTSW	16	72,803,718 (GRCm39)	missense	probably benign	0.10
R9509:Robo1	UTSW	16	72,759,167 (GRCm39)	missense	probably damaging	0.96
R9652:Robo1	UTSW	16	72,821,330 (GRCm39)	missense	possibly damaging	0.95
R9653:Robo1	UTSW	16	72,821,330 (GRCm39)	missense	possibly damaging	0.95
R9749:Robo1	UTSW	16	72,105,257 (GRCm39)	start gained	probably benign
Z1176:Robo1	UTSW	16	72,774,688 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AAGTGAATGTGTTGCCCGAG -3'
(R):5'- TTGAGTCCTTTGATGGCAAATG -3'

Sequencing Primer
(F):5'- AATGTGTTGCCCGAGTTCCTG -3'
(R):5'- GCATGTACCCCTTTGTGA -3'

Posted On

2016-06-21